ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.562C>T (p.Arg188Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003100591 SCV003483394 uncertain significance HNSHA due to aldolase A deficiency 2022-06-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 134 of the ALDOA protein (p.Arg134Cys). This variant is present in population databases (rs11553113, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with ALDOA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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